Varaico: Literature-Extracted Genetic Variants

Gene:GABRB1
Variant:p.A229V
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GABRB1

NM_000812.4:p.A229V

Associated Papers

The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.

Zhang S et al.

Pediatric Research, 2025

40993358 (PubMed )
Supplement: 41390_2025_4427_MOESM2_ESM.xlsx › Sheet1

Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1.

Wang L et al.

Frontiers in Pediatrics, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."